General description
includes: Amelogenesis imperfecta (Familial enamel hypoplasia) (FEH), Familial nephropathy (FN), Progressive retinal atrophy (XL-PRA)
Samoyed
Detailed description
The following tests are included in this combination: Amelogenesis imperfecta (Familial enamel hypoplasia) (FEH), Familial nephropathy (FN), Progressive retinal atrophy (XL-PRA)
Progressive retinal atrophy (XL-PRA)
Order details
| Test number | 8928 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | X-chromosomal recessive |
| Age of onset | 3-5 years |
| Causality | causally |
| Gene | RPGR |
| Mutation | DEL |
| Literature | OMIA:000831-9615 |
Familial Nephropathy (FN) - Samoyed
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8928 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | nephrological |
| Inheritance | X-chromosomal recessive |
| Age of onset | 6 months- 2 years |
| Causality | causally |
| Gene | COL4A5 |
| Mutation | G-T |
| Literature | OMIA:001112-9615 |
Amelogenesis imperfecta (AI) - Samoyed
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8928 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | dental |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | SLC24A4 |
| Mutation | INS |
| Literature | OMIA:001805-9615 |
